Visual stimulation therapy in spinocerebellar ataxia type 29: Case report

Area of Science:

• Neurogenetics
• Pediatric Ophthalmology
• Rehabilitation Medicine

Background:

• Spinocerebellar Ataxia type 29 (SCA29) is a rare neurodegenerative disorder.
• Cerebral visual impairment (CVI) can present in infants with neurogenetic conditions.
• Early diagnosis and intervention are crucial for managing visual dysfunction in pediatric ataxia.

Purpose of the Study:

• To document a rare case of SCA29 presenting with CVI in an infant.
• To evaluate the efficacy of visual stimulation therapy (VST) for improving functional vision in this patient.
• To highlight the role of structured visual assessment in monitoring treatment outcomes.

Main Methods:

• A case report of a 4-month-old male infant with suspected visual impairment and hypotonia.
• Genetic testing confirmed a pathogenic variant in the ITPR1 gene, diagnosing SCA29.
• Weekly VST using high-contrast stimuli was administered, with progress tracked via the VAS CVI-PIMD scale.

Main Results:

• The patient exhibited severe CVI at presentation, with nystagmus and absent visual fixation.
• Following 20 VST sessions, significant improvements in visual behavior and acuity were observed.
• The VAS CVI-PIMD scale demonstrated a stepwise functional visual gain, progressing from severe CVI to normal classification.

Conclusions:

• Early visual rehabilitation, specifically VST, can be effective in improving visual outcomes for children with rare ataxias and CVI.
• This case underscores the importance of early intervention for neurogenetic visual dysfunction.
• Standardized visual assessment tools are valuable for tracking progress and guiding therapy in pediatric cases of CVI secondary to ataxia.